Texas Newborn Screening Panel

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TEXAS NEWBORN SCREENING PANEL BLOODSPOT TESTING (conducted at DSHS Laboratory) Amino Acid Disorders Core Conditions Secondary Conditions • Argininosuccinic Aciduria (ASA) • Argininemia (ARG) • Citrullinemia, Type I (CIT) • Benign Hyperphenylalaninemia (H-PHE) • Homocystinuria (HCY) • Biopterin defect in cofactor biosynthesis (BIOPT BS) • Maple Syrup Urine Disease (MSUD) • Biopterin defect in cofactor regeneration (BIOPT REG) • Classic Phenylketonuria (PKU) • Citrullinemia, Type II (CIT II) • Tyrosinemia, Type I (TYR I) • Hypermethioninemia (MET) • Tyrosinemia, Type II (TYR II) • Tyrosinemia, Type III (TYR III) Fatty Acid Disorders Core Conditions Secondary Conditions • Carnitine Uptake Defect (CUD) • 2,4 Dienoyl-CoA Reductase Deficiency (DE RED) • Long Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency • Carnitine Acylcarnitine Translocase Deficiency (CACT) (LCHAD) • Carnitine Palmitoyltransferase Type I Deficiency (CPT I) • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) • Carnitine Palmitoyltransferase Type II Deficiency (CPT II) • Trifunctional Protein Deficiency (TFP) • Glutaric Acidemia Type II (GA2) • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) • Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCKAT) • Medium/Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD) • Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Organic Acid Disorders Core Conditions Secondary Conditions • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) • 2 Methylbutyrylglycinuria (2MBG) • 3-Hydroxy-3-Methylglutaric Aciduria (HMG) • 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA) • Beta-Ketothiolase Deficiency (BKT) • 3-Methylglutaconic Aciduria (3MGA) • Glutaric Acidemia Type I (GA1) • Isobutyrylglycinuria (IBG) • Isovaleric Acidemia (IVA) • Methylmalonic Acidemia with Homocystinuria (Cbl C, D) • Methylmalonic Acidemia (Cobalamin disorders- Cbl A,B) • Malonic Acidemia (MAL) • Methylmalonic Acidemia (Methylmalonic-CoA mutase) • Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency-MCD) • Propionic Acidemia (PROP) Endocrine Disorders Core Conditions Secondary Conditions • Congenital Adrenal Hyperplasia (CAH) N/A • Primary Congenital Hypothyroidism (CH) Hemoglobin Disorders Core Conditions Secondary Conditions • S,S (Sickle Cell Anemia) • Various other hemoglobinopathies • S,C Disease • S Beta-Thalassemia Other Disorders Core Conditions Secondary Conditions • Severe Combined Immunodeﬁciencies (SCID) • T-cell related lymphocyte deﬁciencies • Biotinidase Deficiency (BIOT) • Classic Galactosemia (GALT) • Cys�c Fibrosis (CF) • X-linked Adrenoleukodystrophy (X-ALD) • Spinal Muscular Atrophy due to homozygous dele�on of exon 7 in SMN1 (SMA) Note: Although the primary mission of NBS is to identify newborns at highest risk for the core conditions, secondary conditions may also be detected during screening for core conditions. Additional testing may be needed to determine whether it is the core condition or a secondary condition. POINT-OF-SERVICE SCREENING (conducted at birthing facility) • Hearing • Critical Congenital Heart Disease Revised July 2021 .

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Amino Acid Disorders 105
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